Anghelescu, C., Francou, B., Cardas, R., Guiochon-Mantel, A., Aubourg, P., Servais, L., Gidaro, T. :
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype
Eur J Neurol, 2017 ; 24 (3) : e15-e16
Publications (1184)
Garibaldi, M., Fattori, F., Riva, B., Labasse, C., Brochier, G., Ottaviani, P., Sacconi, S., Vizzaccaro, E., Laschena, F., Romero, N. B., Genazzani, A., Bertini, E., Antonini, G. :
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis Clin Genet, 2017 ; 91 (5) : 780-786
A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis Clin Genet, 2017 ; 91 (5) : 780-786
Stojkovic, T., Chanut, A., Laforet, P., Madelaine, A., Petit, F., Romero, N. B., Malfatti, E. :
Severe asymmetric muscle weakness revealing Glycogenin-1 polyglucosan body myopathy Muscle Nerve, 2017 ; (SP) :
Severe asymmetric muscle weakness revealing Glycogenin-1 polyglucosan body myopathy Muscle Nerve, 2017 ; (SP) :
Echigoya, Y., Lim, K. R. Q., Trieu, N., Bao, B., Miskew Nichols, B., Vila, M. C., Novak, J. S., Hara, Y., Lee, J., Touznik, A., Mamchaoui, K., Aoki, Y., Takeda, S., Nagaraju, K., Mouly, V., Maruyama, R., Duddy, W., Yokota, T. :
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy Mol Ther, 2017 ; (SP) :
Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy Mol Ther, 2017 ; (SP) :
Preisler, N., Laforet, P., Madsen, K. L., Husu, E., Vissing, C., Hedermann, G., Galbo, H., Lindberg, C., Vissing, J. :
Skeletal muscle metabolism during prolonged exercise in Pompe disease Endocr Connect, 2017 ; 6 (6) : 384-394
Skeletal muscle metabolism during prolonged exercise in Pompe disease Endocr Connect, 2017 ; 6 (6) : 384-394
Delstanche, S., Servais, L., Gidaro, T. :
Improved Muscular Weakness During Asthma Exacerbation JAMA Neurol, 2017 ; 74 (3) : 353-354
Improved Muscular Weakness During Asthma Exacerbation JAMA Neurol, 2017 ; 74 (3) : 353-354
Brockhoff, M., Rion, N., Chojnowska, K., Wiktorowicz, T., Eickhorst, C., Erne, B., Frank, S., Angelini, C., Furling, D., Ruegg, M. A., Sinnreich, M., Castets, P. :
Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I J Clin Invest, 2017 ; 127 (2) : 549-563
Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I J Clin Invest, 2017 ; 127 (2) : 549-563
Allamand, V. :
Génétique : Intérêt du NGS dans un cas atypique de LGMD liée à l’alphadystroglycane Med Sci (Paris), 2017 ; 33 Hors Serie : 57
Génétique : Intérêt du NGS dans un cas atypique de LGMD liée à l’alphadystroglycane Med Sci (Paris), 2017 ; 33 Hors Serie : 57
Lopomo, A., Berrih-Aknin, S. :
Autoimmune Thyroiditis and Myasthenia Gravis Front Endocrinol (Lausanne), 2017 ; 8 : 169
Autoimmune Thyroiditis and Myasthenia Gravis Front Endocrinol (Lausanne), 2017 ; 8 : 169
Schoser, B., Eymard, B., Datt, J., Mantegazza, R. :
Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer + ERRATUM J Neurol, 2017 ; (SP) :
Lambert-Eaton myasthenic syndrome (LEMS): a rare autoimmune presynaptic disorder often associated with cancer + ERRATUM J Neurol, 2017 ; (SP) :
